ClinVar

NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)

Gene:

LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11129602 (on Assembly GRCh38)
• Chr19: 11240278 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)

Other names:

NP_000518.1:p.V827I; NM_000527.5(LDLR):c.2479G>A

HGVS:

• NC_000019.10:g.11129602G>A
• NG_009060.1:g.45222G>A
• NM_000527.5:c.2479G>AMANE SELECT
• NM_001195798.2:c.2479G>A
• NM_001195799.2:c.2356G>A
• NM_001195800.2:c.1975G>A
• NM_001195803.2:c.1945G>A
• NP_000518.1:p.Val827Ile
• NP_000518.1:p.Val827Ile
• NP_001182727.1:p.Val827Ile
• NP_001182728.1:p.Val786Ile
• NP_001182729.1:p.Val659Ile
• NP_001182732.1:p.Val649Ile
• LRG_274t1:c.2479G>A
• LRG_274:g.45222G>A
• LRG_274p1:p.Val827Ile
• NC_000019.9:g.11240278G>A
• NM_000527.4:c.2479G>A
• P01130:p.Val827Ile
• c.2479G>A

This HGVS expression did not pass validation

Protein change:

V649I

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001657; UniProtKB: P01130#VAR_005418; dbSNP: rs137853964

NCBI 1000 Genomes Browser:

rs137853964

Molecular consequence:

• NM_000527.5:c.2479G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195798.2:c.2479G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195799.2:c.2356G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195800.2:c.1975G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195803.2:c.1945G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

no known functional consequence - Comment(s)

• non-disruptive missense